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Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I

✍ Scribed by Ernst Christensen


Book ID
115824297
Publisher
Elsevier Science
Year
1983
Tongue
English
Weight
464 KB
Volume
129
Category
Article
ISSN
0009-8981

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Novel mutations of the glutaryl-CoA dehy
✍ lkeda, Hiroyuki; Kimura, Toshiyuki; Ikegami, Tohru; Kato, Mitsuhiro; Matsunaga, πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 9 KB πŸ‘ 2 views

We identified three different point mutations in the glutaryl-CoA dehydrogenase (GCDH) gene in two unrelated Japanese patients with glutaric aciduria type I (GA-I). One patient was a homozygote for Arg355His and the other a compound heterozygote for Ser305Leu and Met339Val. Arg355His and Met339Val a